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European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
Molecular Therapy. Nucleic Acids|September 16, 2024
Endothelial derived, secreted long non-coding RNAs <i>Gadlor1</i> and <i>Gadlor2</i> aggravate cardiac remodelingMerve Keles, Steve Grein, Natali Froese, et al.
Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.
Circulation|December 9, 2016
Nucleoside Diphosphate Kinase-C Suppresses cAMP Formation in Human Heart FailureIssam H Abu-Taha, Jordi Heijman, Hans-Jörg Hippe, et al.
Nature Genetics|January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseCornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.
American Journal of Human Genetics|December 24, 2013
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationSabrina Dusi, Lorella Valletta, Tobias B Haack, et al.
Circulation|February 8, 2013
Calmodulin mutations associated with recurrent cardiac arrest in infantsLia Crotti, Christopher N Johnson, Elisabeth Graf, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
Circulation. Genomic and Precision Medicine|March 17, 2018
Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular DystrophyIbrahim El-Battrawy, Zhihan Zhao, Huan Lan, et al.
Scientific Reports|April 15, 2018
Defective immuno- and thymoproteasome assembly causes severe immunodeficiencyIrina Treise, Eva M Huber, Tanja Klein-Rodewald, et al.
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